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MetabolomicsMetabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature
Not available
ORGANISM(S): Homo sapiens 
ST001118 | MetabolomicsWorkbench
MetabolomicsTargeted Metabolomic Analysis in Patients with Wilson Disease Reveals Dysregulated Choline, Methionine and Aromatic Amino Acid Metabolism: Implications for Hepatic and Neurological Phenotypes
Not available
ORGANISM(S): Homo sapiens 
ST001259 | MetabolomicsWorkbench
ProteomicsMetallothionein immunohistochemistry has high sensitivity and specificity for detection of Wilson disease
Diagnosis of Wilson disease (WD) can be difficult because of its protean clinical presentation, but early diagnosis is important because effective treatment is available and can prevent disease progression. Using quantitative proteomics, we characterized proteins that are differentially expressed in...
ORGANISM(S): Homo sapiens (Human) 
2023-04-18 | PXD029069 | Pride
Quantitative proteomics Immunohistochemistry Liver Wilson disease Mt1g Sensitivity Metallothionein-1g Specificity 
TranscriptomicsTranscription profiling of mouse model of Wilson disease reveals specific changes of liver transcriptome in the early stages of copper accumulation
Wilson disease (WD) is a severe metabolic disorder caused by genetic inactivation of copper-transporting ATPase ATP7B. In WD, copper accumulates in several tissues, particularly in the liver, inducing marked time-dependent pathological changes. To identify initial events in the copper-dependent de...
ORGANISM(S): Mus musculus 
2008-06-13 | E-GEOD-5348 | biostudies-arrayexpress
MetabolomicsIntegrated gut microbiome and lipidomic analyses in animal models of Wilson disease reveal a role of intestine ATP7B in copper-related metabolic dysregulation (Part 1)
Not available
ORGANISM(S): Mus musculus 
ST002423 | MetabolomicsWorkbench
MetabolomicsIntegrated gut microbiome and lipidomic analyses in animal models of Wilson disease reveal a role of intestine ATP7B in copper-related metabolic dysregulation (Part 3)
Not available
ORGANISM(S): Mus musculus 
ST002425 | MetabolomicsWorkbench
MetabolomicsIntegrated gut microbiome and lipidomic analyses in animal models of Wilson disease reveal a role of intestine ATP7B in copper-related metabolic dysregulation (Part 2)
Not available
ORGANISM(S): Mus musculus 
ST002424 | MetabolomicsWorkbench
MetabolomicsDeficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver Disease
Non-alcoholic fatty liver is the most common liver disease worldwide. Here, we show that the mitochondrial protein mitofusin 2 (Mfn2) protects against liver disease. Reduced Mfn2 expression was detected in liver biopsies from patients with non-alcoholic steatohepatitis (NASH). Moreover, reduced Mfn2...
2018-01-25 | MTBLS600 | MetaboLights
TranscriptomicsTRANSCRIPTIONAL REMODELLING IN RESPONSE TO CHANGING COPPER LEVELS IN WILSON DISEASE MODEL OF SACCHAROMYCES CEREVISIAE
A 3 x 2 factorial design was used to elucidate the genome-wide transcriptional response to the deletion of yeast ortholog of Wilson and Menkes disease causing gene; CCC2, at changing copper levels. Homozygous deletion mutant of CCC2, which encodes Cu+2 transporting P-type ATPase required to export c...
ORGANISM(S): Saccharomyces cerevisiae 
2013-09-02 | E-MEXP-3927 | biostudies-arrayexpress
MetabolomicsBiochemical Profiling of the Brain and Blood Metabolome in a Mouse Model of Prodromal Parkinson’s Disease Reveals Distinct Metabolic Profiles (NMR assay)
Parkinson’s disease is the second most common neurodegenerative disease. In the vast majority of cases the origin is not genetic and the cause is not well understood, although progressive accumulation of α-synuclein aggregates appears central to the pathogenesis. Currently, treatments that slow dise...
2019-02-07 | MTBLS640 | MetaboLights
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